Mosaicism of Solid Gold supports the causality of a noncoding A-to-G transition in the determinism of the callipyge phenotype.

To identify the callipyge mutation, we have resequenced 184 kb spanning the DLK1-, GTL2-, PEG11-, and MEG8-imprinted domain and have identified an A-to-G transition in a highly conserved dodecamer motif between DLK1 and GTL2. This was the only difference found between the callipyge (CLPG) allele and...

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Autores principales: Smit, Maria, Segers, Karin, Carrascosa, Laura Garcia, Shay, Tracy, Baraldi, Francesca, Gyapay, Gabor, Snowder, Gary, Georges, Michel, Cockett, Noelle, Charlier, Carole
Formato: Artigo
Lenguaje:Inglês
Publicado: 2003
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1462405/
https://ncbi.nlm.nih.gov/pubmed/12586730
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